Publications:

Cornea verticillata and acroparesthesia efficiently discriminate clusters of severity in Fabry disease.

Plos One

Mauhin, Wladimir W; Benveniste, Olivier O; Amelin, Damien D; Montagner, Clémence C; Lamari, Foudil F; Caillaud, Catherine C; Douillard, Claire C; Dussol, Bertrand B; Leguy-Seguin, Vanessa V; D'Halluin, Pauline P; Noel, Esther E; Zenone, Thierry T; Matignon, Marie M; Maillot, François F; Ly, Kim-Heang KH; Besson, Gérard G; Willems, Marjolaine M; Labombarda, Fabien F; Masseau, Agathe A; Lavigne, Christian C; Lacombe, Didier D; Maillard, Hélène H; Lidove, Olivier O

Publication Date: 2020

Variant appearance in text: GLA: 1016T>G

PubMed Link: 32442237

Variant Present in the following documents:

• Main text
• pone.0233460.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: GLA: V339G

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page